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https://www.readbyqxmd.com/read/28323660/impact-of-rare-variants-in-autosomal-dominant-hypercholesterolemia-causing-genes
#1
Sebastiano Calandra, Patrizia Tarugi, Stefano Bertolini
PURPOSE OF REVIEW: The systematic analysis of the major candidate genes in autosomal dominant hypercholesterolemia (ADH) and the use of next-generation sequencing (NGS) technology have made possible the discovery of several rare gene variants whose pathogenic effect in most cases remains poorly defined. RECENT FINDINGS: One major advance in the field has been the adoption of a set of international guidelines for the assignment of pathogenicity to low-density lipoprotein receptor (LDLR) gene variants based on the use of softwares, complemented with data available from literature and public databases...
March 18, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28319472/infective-endocarditis-in-children-an-update
#2
Garth Dixon, Georgi Christov
PURPOSE OF REVIEW: Infective endocarditis in children remains a clinical challenge. Here, we review the impact of the updated 2015 American Heart Association and European Society of Cardiology guidelines on management as well as the significance of the new predisposing factors, diagnostic and treatment options, and the impact of the 2007-2008 change in prophylaxis recommendations. RECENT FINDINGS: The new 2015 infective endocarditis guidelines introduced the endocarditis team, added the new imaging modalities of computer tomography and PET-computer tomography into the diagnostic criteria and endorsed the concept of safety of relatively early surgical treatment...
March 17, 2017: Current Opinion in Infectious Diseases
https://www.readbyqxmd.com/read/28315732/2017-aha-acc-focused-update-of-the-2014-aha-acc-guideline-for-the-management-of-patients-with-valvular-heart-disease-a-report-of-the-american-college-of-cardiology-american-heart-association-task-force-on-clinical-practice-guidelines
#3
Rick A Nishimura, Catherine M Otto, Robert O Bonow, Blase A Carabello, John P Erwin, Lee A Fleisher, Hani Jneid, Michael J Mack, Christopher J McLeod, Patrick T O'Gara, Vera H Rigolin, Thoralf M Sundt, Annemarie Thompson
No abstract text is available yet for this article.
March 10, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28314432/-consensus-document-on-the-management-and-follow-up-of-the-male-with-lower-urinary-tract-symptoms-secondary-to-benign-prostate-hyperplasia
#4
F J Brenes Bermúdez, F Brotons Muntó, J Castiñeiras Fernández, J M Cozar Olmo, A Fernández-Pro Ledesma, J A Martín Jiménez, M L Martínez-Berganza Asensio, B Miñana López, J M Molero García
Benign prostate hyperplasia (BPH) is a high-incidence condition. Its diagnosis and treatment is shared between urologists and Primary Care physicians. Its management uses up a significant amount of resources. The Spanish Society of Primary Care Physicians (SEMERGEN), the Spanish Society of General Practitioners and Family Doctors (SEMG), the Spanish Society of Family and Community Medicine (semFYC), and the Spanish Association of Urology (AEU) have prepared a document on the management and monitoring of BPH, in which the aim is to incorporate the latest evidence in order to update the previously published guidelines, and present them here in condensed form...
November 2016: Semergen
https://www.readbyqxmd.com/read/28314170/-pseudo-subarachnoid-hemorrhage-sign-on-early-brain-computed-tomography-in-out-of-hospital-cardiac-arrest-survivors-receiving-targeted-temperature-management
#5
Byung Kook Lee, Youn-Jung Kim, Seung Mok Ryoo, Su Jin Kim, Dong Hun Lee, Kyung Woon Jeung, Won Young Kim
PURPOSE: Newly updated guidelines suggest brain computed tomography for out-of-hospital cardiac arrest survivors to identify a neurologic cardiac arrest cause. We hypothesized that the "pseudo-subarachnoid hemorrhage" (p-SAH) sign in cardiac arrest survivors is associated with poor outcome. MATERIALS AND METHODS: We retrospectively evaluated the registries of 2 tertiary hospitals, identifying 836 adult (≥18 years) patients achieving return of spontaneous circulation after out-of-hospital cardiac arrest...
February 16, 2017: Journal of Critical Care
https://www.readbyqxmd.com/read/28306587/comparison-of-the-american-college-of-cardiology-american-heart-association-and-the-european-society-of-cardiology-guidelines-for-the-management-of-patients-with-non-st-segment-elevation-acute-coronary-syndromes
#6
Aya J Alame, Aris Karatasakis, Judit Karacsonyi, Barbara A Danek, Erica Resendes, Jose R Martinez Parachini, Pratik Kalsaria, Michele Roesle, Bavana V Rangan, Paul Sorajja, Hani Jneid, Subhash Banerjee, Emmanouil S Brilakis
INTRODUCTION: The American College of Cardiology (ACC), the American Heart Association (AHA), and the European Society of Cardiology (ESC) have been developing guidelines to assist clinicians in making evidence-based decisions. MATERIALS AND METHODS: The current ACC/AHA and ESC guidelines for non-ST-segment elevation acute coronary syndromes (NSTE-ACS) that were updated in 2014 and 2015, respectively, were compared to assess the number of recommendations on the basis of class of recommendation and level of evidence (LOE), the sources cited, and the content...
March 16, 2017: Coronary Artery Disease
https://www.readbyqxmd.com/read/28306163/an-update-of-dens-invaginatus-in-the-diagnosis-and-treatment
#7
REVIEW
Jingjing Zhu, Xinhuan Wang, Yanjun Fang, Johannes W Von den Hoff, Liuyan Meng
Dens invaginatus is a malformation with varying anatomical features, posing challenges to treatment. Early and accurate diagnosis plays a significant role in selecting the appropriate treatment. The diagnosis of teeth with a complex root canal system including dens invaginatus has made progress with the application of three-dimensional imaging techniques in endodontics. Advanced treatment options provide hope for teeth that could not be saved before. This review discusses diagnostic methods and treatment options for teeth with dens invaginatus, and provides guidelines for the management of dens invaginatus cases in clinic...
March 17, 2017: Australian Dental Journal
https://www.readbyqxmd.com/read/28303708/the-assessment-of-the-ionizing-radiation-dose-received-by-patients-during-some-diagnostic-x-ray-examinations-carried-out-on-the-basis-of-the-working-procedures-in-the-health-care-entities
#8
Marcin Bekas, Elżbieta Waśniewska, Adam Wardziński, Kamil Wieprzowski
Background: X-ray examination is a popular and universally used injury and disease diagnostic method. A distinctive X ray examination feature is that it can be done quickly which is extremely important in case of the need for rapid diagnosis of patients in life threatening condition. Another advantage of the X-ray examinations is also relatively low cost of carry. However, X-ray examination involve adverse health effects. During the examination the patient is subjected to ionizing radiation that might have impact on his health...
2017: Roczniki Państwowego Zakładu Higieny
https://www.readbyqxmd.com/read/28303425/common-data-elements-for-clinical-research-in-mitochondrial-disease-a-national-institute-for-neurological-disorders-and-stroke-project
#9
Amel Karaa, Shamima Rahman, Anne Lombès, Patrick Yu-Wai-Man, Muniza K Sheikh, Sherita Alai-Hansen, Bruce H Cohen, David Dimmock, Lisa Emrick, Marni J Falk, Shana McCormack, David Mirsky, Tony Moore, Sumit Parikh, John Shoffner, Tanja Taivassalo, Mark Tarnopolsky, Ingrid Tein, Joanne C Odenkirchen, Amy Goldstein
OBJECTIVES: The common data elements (CDE) project was developed by the National Institute of Neurological Disorders and Stroke (NINDS) to provide clinical researchers with tools to improve data quality and allow for harmonization of data collected in different research studies. CDEs have been created for several neurological diseases; the aim of this project was to develop CDEs specifically curated for mitochondrial disease (Mito) to enhance clinical research. METHODS: Nine working groups (WGs), composed of international mitochondrial disease experts, provided recommendations for Mito clinical research...
March 16, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28302350/primary-prophylaxis-in-haemophilia-care-guideline-update-2016
#10
Kathelijn Fischer, Rolf Ljung
This paper reviews the current status on recommendations or guidelines for primary prophylaxis based on recent published papers from organizations or group of experts as well as some original key papers. A rather uniform view exists that prophylaxis should be initiated at an early age before or after no more than a single joint bleed and, if possible, preferably be continued for life. The dose and dose frequency of prophylaxis is dependent on the goal of treatment, bleeding phenotype, compliance, venous access and economic resources in the health care system and should be tailored individually based on clinical outcome and pharmacokinetics...
February 17, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28302183/reaching-multidisciplinary-consensus-on-classification-of-anaphylaxis-for-the-eleventh-revision-of-the-world-health-organization-s-who-international-classification-of-diseases-icd-11
#11
Luciana Kase Tanno, Robert J G Chalmers, Moises A Calderon, Ségolène Aymé, Pascal Demoly
BACKGROUND: Although currently misclassified in the International Classification of Diseases (ICD) and still not officially listed as a rare disease, anaphylaxis is a well-known clinical emergency. Anaphylaxis is now one of the principal headings in the "Allergic and hypersensitivity conditions" section recently compiled for the forthcoming 11(th) Revision of ICD (ICD-11). We here report the building process used for the pioneering "Anaphylaxis" subsection of ICD-11 in which we aimed for transparency as recommended in the ICD-11 revision guidelines...
March 16, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28302126/systematic-meta-review-of-supported-self-management-for-asthma-a-healthcare-perspective
#12
Hilary Pinnock, Hannah L Parke, Maria Panagioti, Luke Daines, Gemma Pearce, Eleni Epiphaniou, Peter Bower, Aziz Sheikh, Chris J Griffiths, Stephanie J C Taylor
BACKGROUND: Supported self-management has been recommended by asthma guidelines for three decades; improving current suboptimal implementation will require commitment from professionals, patients and healthcare organisations. The Practical Systematic Review of Self-Management Support (PRISMS) meta-review and Reducing Care Utilisation through Self-management Interventions (RECURSIVE) health economic review were commissioned to provide a systematic overview of supported self-management to inform implementation...
March 17, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28301923/korean-society-of-gastrointestinal-endoscopy-guidelines-for-endoscope-reprocessing
#13
Byoung Kwan Son, Byung-Wook Kim, Won Hee Kim, Dae-Sung Myung, Young-Seok Cho, Byung Ik Jang
The Korean Society of Gastrointestinal Endoscopy (KSGE) issued guidelines for endoscope reprocessing for the first time in 1995, and the version of the guidelines was updated in August 2009, August 2012, and March 2015. Guidelines for endoscope reprocessing should be revised continuously, because new disinfectants and devices are developed and introduced. The current official version of the KSGE guidelines for endoscope reprocessing is explained herein to assist the reader in understanding the KSGE requirements for cleaning and disinfecting endoscopes...
March 17, 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/28300033/-current-status-of-extracorporeal-shock-wave-lithotripsy-in-urinary-lithiasis
#14
Jose Gregorio Pereira-Arias, Mikel Gamarra-Quintanilla, Luis Felipe Urdaneta-Salegui, Jorge Alberto Mora-Christian, Andrea Sánchez-Vazquez, Ander Astobieta-Odriozola, Gaspar Ibarluzea-González
Over the last decade, urinary lithiasis' prevalence has dramatically increased due to diet and lifestyle changes, growing 10.6% and 7.1% in men and women respectively. Extracorporeal shock wave lithotripsy has lost relevance in current practice due to endoscopic device development and unpredictability of results. Instrument miniaturization is leading to an increase of the percutaneous approach of increasingly smaller stones, while most flexible ureteroscopes durability and digitalization has allowed urologists to address larger stones...
March 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28298458/2017-aha-acc-focused-update-of-the-2014-aha-acc-guideline-for-the-management-of-patients-with-valvular-heart-disease-a-report-of-the-american-college-of-cardiology-american-heart-association-task-force-on-clinical-practice-guidelines
#15
REVIEW
Rick A Nishimura, Catherine M Otto, Robert O Bonow, Blase A Carabello, John P Erwin, Lee A Fleisher, Hani Jneid, Michael J Mack, Christopher J McLeod, Patrick T O'Gara, Vera H Rigolin, Thoralf M Sundt, Annemarie Thompson
No abstract text is available yet for this article.
March 15, 2017: Circulation
https://www.readbyqxmd.com/read/28297309/production-review-and-impact-of-technical-quality-control-guidelines-in-a-national-context
#16
Michelle K Nielsen, Kyle E Malkoske, Erika Brown, Kevin Diamond, Normand Frenière, John Grant, Natalie Pomerleau-Dalcourt, Jason Schella, L John Schreiner, Laurent Tantôt, J Eduardo Villarreal-Barajas, Jean-Pierre Bissonnette
A close partnership between the Canadian Partnership for Quality Radiotherapy (CPQR) and the Canadian Organization of Medical Physicist's (COMP) Quality Assurance and Radiation Safety Advisory Committee (QARSAC) has resulted in the development of a suite of Technical Quality Control (TQC) guidelines for radiation treatment equipment; they outline specific performance objectives and criteria that equipment should meet in order to assure an acceptable level of radiation treatment quality. The adopted framework for the development and maintenance of the TQCs ensures the guidelines incorporate input from the medical physics community during development, measures the workload required to perform the QC tests outlined in each TQC, and remain relevant (i...
November 2016: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/28294295/breast-cancer-major-changes-in-the-american-joint-committee-on-cancer-eighth-edition-cancer-staging-manual
#17
Armando E Giuliano, James L Connolly, Stephen B Edge, Elizabeth A Mittendorf, Hope S Rugo, Lawrence J Solin, Donald L Weaver, David J Winchester, Gabriel N Hortobagyi
Answer questions and earn CME/CNE The revision of the eighth edition of the primary tumor, lymph node, and metastasis (TNM) classification of the American Joint Commission of Cancer (AJCC) for breast cancer was determined by a multidisciplinary team of breast cancer experts. The panel recognized the need to incorporate biologic factors, such as tumor grade, proliferation rate, estrogen and progesterone receptor expression, human epidermal growth factor 2 (HER2) expression, and gene expression prognostic panels into the staging system...
March 14, 2017: CA: a Cancer Journal for Clinicians
https://www.readbyqxmd.com/read/28293974/treatment-of-hepatitis-c-virus-infection-updated-swedish-guidelines-2016
#18
Martin Lagging, Rune Wejstål, Gunnar Norkrans, Olle Karlström, Soo Aleman, Ola Weiland, Maria Castedal, Johan Westin
In a recent expert meeting, Swedish recommendations for the treatment of hepatitis C virus (HCV) infection were updated. An interferon-free combination of direct-acting antiviral agents is considered and indicated for all patients with chronic HCV infection, but the ability to treat all is limited primarily by high cost of medication. The group of patients prioritized for therapeutic intervention has been extended to also include fertile women desiring to become pregnant. A more thorough discussion of treatment for people who inject drugs (PWIDs) in order to diminish transmission is included, and the clinical significance of baseline NS5A resistance associated variants (RAVs), also known as resistance associated substitutions (RASs), for the treatment of HCV genotype 1a or 3 infection is discussed...
March 15, 2017: Infectious Diseases
https://www.readbyqxmd.com/read/28293933/unmet-primary-physicians-needs-for-allergic-rhinitis-care-in-korea
#19
Hyeon Jong Yang, Young Hyo Kim, Bora Lee, Do Youn Kong, Dong Kyu Kim, Mi Ae Kim, Bong Seong Kim, Won Young Kim, Jeong Hee Kim, Yang Park, So Yeon Park, Woo Yong Bae, Keejae Song, Min Suk Yang, Sang Min Lee, Young Mok Lee, Hyun Jong Lee, Jae Hong Cho, Hye Mi Jee, Jeong Hee Choi, Young Yoo, Young Il Koh
Allergic rhinitis (AR) is one of the most common chronic allergic respiratory diseases worldwide. Various practical guidelines for AR have been developed and updated to improve the care of AR patients; however, up to 40% patients remain symptomatic. The unmet need for AR care is one of the greatest public health problems in the world. The gaps between guideline and real-world practice, and differences according to the region, culture, and medical environments may be the causes of unmet needs for AR care. Because there is no evidence-based AR practical guideline reflecting the Korean particularity, various needs are increasing...
May 2017: Allergy, Asthma & Immunology Research
https://www.readbyqxmd.com/read/28292522/guidelines-for-the-medical-treatment-of-idiopathic-pulmonary-fibrosis
#20
Antoni Xaubet, María Molina-Molina, Orlando Acosta, Elena Bollo, Diego Castillo, Estrella Fernández-Fabrellas, José Antonio Rodríguez-Portal, Claudia Valenzuela, Julio Ancochea
Idiopathic pulmonary fibrosis is defined as chronic fibrosing interstitial pneumonia limited to the lung, with poor prognosis. The incidence has been rising in recent years probably due to improved diagnostic methods and increased life expectancy. In 2013, the SEPAR guidelines for the diagnosis and treatment for idiopathic pulmonary fibrosis were published. Since then, clinical trials and meta-analyses have shown strong scientific evidence for the use of pirfenidone and nintedanib in the treatment of idiopathic pulmonary fibrosis...
March 11, 2017: Archivos de Bronconeumología
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